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Zawartość zarchiwizowana w dniu 2024-05-07

Metabolic correction of hepatoerythropoietic porphyria by retrovirus- mediated gene transfer

Cel



Hepatoerytropoietic porphyria (HEP) is an inherited metabolic disorder characterised by the accumulation of porphyrins resulting from a deficiency in uroporphyrinogen decarboxylase (UROD). This autosomal recessive disorder has been chosen as a model of hematopoietic disease amenable to gene therapy. The disease is severe, starting early in infancy with no specific treatment and gene therapy would represent a great therapeutc improvement. A gene transfer strategy in hematopoiefic cells using retoviral vectors is proposed.
As first step, the efficiency of the viral constructs is tested on human fibroblasts and lymphoblastoid cells which are easy to obtain. At the next step gene transfer is performed in hematopoietic cells obtained from peripheral blood. In the different target cells, the integration of proviral sequences and their expression is checked in short term and long term cultures. In UROD deficient cells, the metabolic correction is analysed in terms of UROD activity and porphyrin accumulation. Finally, the most appropiate viral construct will be used further, ideally in an animal model of the disease, before the design of a human gene therapy clinical protocol.

Dziedzina nauki (EuroSciVoc)

Program(-y)

Temat(-y)

Zaproszenie do składania wniosków

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System finansowania

RGI - Research grants (individual fellowships)

Koordynator

Université de Bordeaux II
Wkład UE
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Adres
146,Rue Léo Saignat
33076 Bordeaux
Francja
Koszt całkowity
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